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Aliases for MEGF9 Gene

Aliases for MEGF9 Gene

  • Multiple EGF Like Domains 9 2 3 5
  • Epidermal Growth Factor-Like Protein 5 3 4
  • EGF-Like-Domain, Multiple 5 2 3
  • EGFL5 3 4
  • Multiple Epidermal Growth Factor-Like Domains Protein 9 3
  • Multiple EGF-Like Domains Protein 9 4
  • Multiple EGF-Like-Domains 9 2
  • EGF-Like Protein 5 4
  • KIAA0818 4

External Ids for MEGF9 Gene

Previous HGNC Symbols for MEGF9 Gene

  • EGFL5

Previous GeneCards Identifiers for MEGF9 Gene

  • GC09M122402
  • GC09M123363
  • GC09M092980

Summaries for MEGF9 Gene

GeneCards Summary for MEGF9 Gene

MEGF9 (Multiple EGF Like Domains 9) is a Protein Coding gene. An important paralog of this gene is USH2A.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MEGF9 Gene

Genomics for MEGF9 Gene

Regulatory Elements for MEGF9 Gene

Enhancers for MEGF9 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09F120783 1.4 FANTOM5 Ensembl ENCODE 12.5 -69.4 -69410 1.0 ELF3 TBP SOX13 PKNOX1 MXI1 MAX CEBPG RFX5 RCOR1 CREM MEGF9 TRAF1 FBXW2 PIR59216 AHCYP2
GH09F120474 0.9 FANTOM5 Ensembl ENCODE 14 +239.3 239297 2.0 CEBPB MEGF9 FBXW2 PIR42824 GC09P120416
GH09F120755 1 Ensembl ENCODE 11.7 -42.4 -42414 2.2 HDGF GTF2F1 CTCF WRNIP1 RAD21 RFX5 ZNF366 SCRT2 SMC3 PRDM10 PSMD5 PSMD5-AS1 MEGF9 TRAF1 PIR59216 AHCYP2
GH09F120778 0.9 ENCODE 11.9 -64.5 -64458 1.1 ELF3 MLX ARID4B THRB ZBTB40 RAD21 RARA YY1 SLC30A9 CREM MEGF9 PIR59216 AHCYP2
GH09F120629 0.7 Ensembl 12.2 +85.2 85187 0.6 SOX13 BCOR ZMYM3 SIN3A NFXL1 ZBTB40 JUND KDM1A FOS NFE2L2 MEGF9 CDK5RAP2 PSMD5-AS1 PIR45570
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MEGF9 on UCSC Golden Path with GeneCards custom track

Promoters for MEGF9 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001313133 1787 5401 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF143 FOS ZNF263 SP3 SP5

Genomic Location for MEGF9 Gene

Chromosome:
9
Start:
120,600,813 bp from pter
End:
120,714,487 bp from pter
Size:
113,675 bases
Orientation:
Minus strand

Genomic View for MEGF9 Gene

Genes around MEGF9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MEGF9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MEGF9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MEGF9 Gene

Proteins for MEGF9 Gene

  • Protein details for MEGF9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H1U4-MEGF9_HUMAN
    Recommended name:
    Multiple epidermal growth factor-like domains protein 9
    Protein Accession:
    Q9H1U4
    Secondary Accessions:
    • B7Z315
    • O75098

    Protein attributes for MEGF9 Gene

    Size:
    602 amino acids
    Molecular mass:
    62984 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAQ88736.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305};

neXtProt entry for MEGF9 Gene

Post-translational modifications for MEGF9 Gene

  • Glycosylation at Asn 40, Ser 64, Asn 182, Asn 205, Asn 218, Asn 245, Asn 267, Asn 305, Asn 428, Asn 468, Asn 481, and Asn 500
  • Modification sites at PhosphoSitePlus

Other Protein References for MEGF9 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MEGF9 Gene

Domains & Families for MEGF9 Gene

Protein Domains for MEGF9 Gene

Suggested Antigen Peptide Sequences for MEGF9 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H1U4

UniProtKB/Swiss-Prot:

MEGF9_HUMAN :
  • Contains 5 laminin EGF-like domains.
Domain:
  • Contains 5 laminin EGF-like domains.
genes like me logo Genes that share domains with MEGF9: view

No data available for Gene Families for MEGF9 Gene

Function for MEGF9 Gene

Phenotypes for MEGF9 Gene

GenomeRNAi human phenotypes for MEGF9:
genes like me logo Genes that share phenotypes with MEGF9: view

Animal Model Products

  • Taconic Biosciences Mouse Models for MEGF9

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MEGF9 Gene

Localization for MEGF9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MEGF9 Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MEGF9 gene
Compartment Confidence
extracellular 3
plasma membrane 2
nucleus 2
cytosol 2
peroxisome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for MEGF9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005604 basement membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with MEGF9: view

Pathways & Interactions for MEGF9 Gene

SuperPathways for MEGF9 Gene

No Data Available

Interacting Proteins for MEGF9 Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 7)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000363040%0d%0a9606.ENSP00000264187%0d%0a9606.ENSP00000374309%0d%0a9606.ENSP00000258341%0d%0a9606.ENSP00000400365%0d%0a9606.ENSP00000252999%0d%0a
Selected Interacting proteins: ENSP00000363040 Q9H1U4-MEGF9_HUMAN for MEGF9 Gene via STRING IID

Gene Ontology (GO) - Biological Process for MEGF9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with MEGF9: view

No data available for Pathways by source and SIGNOR curated interactions for MEGF9 Gene

Transcripts for MEGF9 Gene

mRNA/cDNA for MEGF9 Gene

(1) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(165) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MEGF9 Gene

Multiple EGF-like-domains 9:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MEGF9 Gene

No ASD Table

Relevant External Links for MEGF9 Gene

GeneLoc Exon Structure for
MEGF9
ECgene alternative splicing isoforms for
MEGF9

Expression for MEGF9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MEGF9 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MEGF9 Gene

This gene is overexpressed in Whole Blood (x8.4).

Protein differential expression in normal tissues from HIPED for MEGF9 Gene

This gene is overexpressed in Serum (28.3), Adrenal (22.1), and Monocytes (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MEGF9 Gene



NURSA nuclear receptor signaling pathways regulating expression of MEGF9 Gene:

MEGF9

SOURCE GeneReport for Unigene cluster for MEGF9 Gene:

Hs.744903
genes like me logo Genes that share expression patterns with MEGF9: view

Primer Products

No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for MEGF9 Gene

Orthologs for MEGF9 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MEGF9 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MEGF9 34 35
  • 99.11 (n)
dog
(Canis familiaris)
Mammalia MEGF9 34
  • 90.63 (n)
cow
(Bos Taurus)
Mammalia MEGF9 34 35
  • 88.03 (n)
mouse
(Mus musculus)
Mammalia Megf9 34 16 35
  • 84.87 (n)
rat
(Rattus norvegicus)
Mammalia Megf9 34
  • 84.76 (n)
oppossum
(Monodelphis domestica)
Mammalia MEGF9 35
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MEGF9 35
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves MEGF9 35
  • 70 (a)
OneToOne
LOC100858115 34
  • 67.77 (n)
lizard
(Anolis carolinensis)
Reptilia MEGF9 35
  • 51 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii LOC560805 34
  • 58.4 (n)
MEGF9 35
  • 39 (a)
OneToOne
Species where no ortholog for MEGF9 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MEGF9 Gene

ENSEMBL:
Gene Tree for MEGF9 (if available)
TreeFam:
Gene Tree for MEGF9 (if available)

Paralogs for MEGF9 Gene

Paralogs for MEGF9 Gene

(2) SIMAP similar genes for MEGF9 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with MEGF9: view

Variants for MEGF9 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for MEGF9 Gene

MEGF9_HUMAN-Q9H1U4
The poly-Ala stretch (positions 24 to 31) may be polymorphic and varies from 6 to 8 Ala residues.

Sequence variations from dbSNP and Humsavar for MEGF9 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs1043245 -- 120,603,635(-) GATGT(C/T)AAATA utr-variant-3-prime
rs10491783 -- 120,687,877(-) TATCT(C/G)AATTT intron-variant
rs10491784 -- 120,670,011(-) TACCT(G/T)TTTTA intron-variant
rs10609079 -- 120,619,965(+) AAAAT(-/AA)AGTCA intron-variant
rs10616 -- 120,601,255(+) TGCAG(C/T)AACAA utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for MEGF9 Gene

Variant ID Type Subtype PubMed ID
esv2294531 CNV deletion 18987734
esv33143 CNV loss 17666407
esv3349976 CNV insertion 20981092
esv3621655 CNV loss 21293372
nsv1045180 CNV loss 25217958
nsv1151199 CNV insertion 26484159
nsv526071 CNV loss 19592680
nsv7434 OTHER inversion 18451855
nsv831711 CNV gain 17160897
nsv950934 CNV duplication 24416366

Variation tolerance for MEGF9 Gene

Residual Variation Intolerance Score: 54.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.38; 42.25% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MEGF9 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MEGF9

Disorders for MEGF9 Gene

Relevant External Links for MEGF9

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MEGF9

No disorders were found for MEGF9 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MEGF9 Gene

Publications for MEGF9 Gene

  1. Identification of high-molecular-weight proteins with multiple EGF- like motifs by motif-trap screening. (PMID: 9693030) Nakayama M. … Ohara O. (Genomics 1998) 2 3 4 64
  2. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray S.J. … Dunham I. (Nature 2004) 3 4 64
  3. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark H.F. … Gray A.M. (Genome Res. 2003) 3 4 64
  4. miR-125b acts as a tumor suppressor in breast tumorigenesis via its novel direct targets ENPEP, CK2-I+, CCNJ, and MEGF9. (PMID: 24098452) Feliciano A. … Lleonart M.E. (PLoS ONE 2013) 3 64
  5. Genome-wide association of lipid-lowering response to statins in combined study populations. (PMID: 20339536) Barber M.J. … Krauss R.M. (PLoS ONE 2010) 3 64

Products for MEGF9 Gene

Sources for MEGF9 Gene

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